V9F (p.Val9Phe) variant of KMT2E (Histone reader KMT2E)
V9F (p.Val9Phe) in KMT2E (Histone reader KMT2E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V9F (p.Val9Phe) variant details
- p.Val9Phe
- gnomAD 7-105040977-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.77
- CADD 24.10
- PolyPhen-2 0.34
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available